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</div><div><span>Congenital antithrombin III deficiency</span></div></div>
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</a><h1 class="with-also" itemprop="name">Congenital antithrombin III deficiency</h1>
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</noscript></div><div class="main"><div id="ency_summary"><p>Congenital antithrombin III deficiency is a <a test="test" href="./002048.htm">genetic</a> disorder that causes the blood to clot more than normal.</p></div><section><div class="section"><div class="section-header"><div class="section-title"><h2>Causes</h2></div><div class="section-button"><button type="submit" aria-controls="section-1" role="button" title="Expand/Collapse section"><span class="icon icon-section-action">
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</div></div><div class="section-body" id="section-1"><p>Antithrombin III is a protein in the blood that blocks abnormal blood clots from forming. It helps the body keep a healthy balance between bleeding and clotting. Congenital antithrombin III deficiency is an inherited disease. It occurs when a person receives one abnormal copy of the antithrombin III gene from a parent with the disease.</p><p>The abnormal gene leads to a low level of the antithrombin III protein. This low level of antithrombin III can cause abnormal blood clots (thrombi) that can block blood flow and damage organs. </p><p>People with this condition will often have blood clots at a young age. They are also likely to have family members who have had a blood clotting problem. </p></div></div></section><section><div class="section"><div class="section-header"><div class="section-title"><h2>Symptoms</h2></div><div class="section-button"><button type="submit" aria-controls="section-2" role="button" title="Expand/Collapse section"><span class="icon icon-section-action">
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</div></div><div class="section-body" id="section-2"><p>People will usually have symptoms of a blood clot. Blood clots in the arms or legs usually cause swelling, redness, and pain. When a blood clot breaks off from where it formed and travels to another part of the body, it is called a thromboembolism. Symptoms depend on where the blood clot travels to. A common place is the lung, where the clot can cause a cough, shortness of breath, pain while taking deep breaths, chest pain, and even death. Blood clots that travel to the brain can cause a <a test="test" href="./000726.htm">stroke</a>.</p></div></div></section><section><div class="section"><div class="section-header"><div class="section-title"><h2>Exams and Tests</h2></div><div class="section-button"><button type="submit" aria-controls="section-3" role="button" title="Expand/Collapse section"><span class="icon icon-section-action">
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</div></div><div class="section-body" id="section-3"><p>A physical exam may show:</p><ul><li>A swollen leg or arm</li><li>Decreased <a test="test" href="./007535.htm">breath sounds in the lungs</a></li><li>A rapid heart rate</li></ul><p>The health care provider can also order a <a test="test" href="./003661.htm">blood test</a> to check if you have a low level of antithrombin III. </p></div></div></section><section><div class="section"><div class="section-header"><div class="section-title"><h2>Treatment</h2></div><div class="section-button"><button type="submit" aria-controls="section-4" role="button" title="Expand/Collapse section"><span class="icon icon-section-action">
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</div></div><div class="section-body" id="section-4"><p>A blood clot is treated with blood-thinning medicines (also called anticoagulants). How long you need to take these drugs depends on how serious the blood clot was and other factors. Discuss this with your provider.</p></div></div></section><section><div class="section"><div class="section-header"><div class="section-title"><h2>Support Groups</h2></div><div class="section-button"><button type="submit" aria-controls="section-5" role="button" title="Expand/Collapse section"><span class="icon icon-section-action">
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</div></div><div class="section-body" id="section-5"><p>More information and support for people with congenital antithrombin III deficiency and their families can be found at:</p><ul><li>National Organization for Rare Disorders -- <a class="extln" target="_blank" href="https://rarediseases.org/rare-diseases/antithrombin-deficiency/">rarediseases.org/rare-diseases/antithrombin-deficiency/</a></li><li>MedlinePlus -- <a class="extln" target="_blank" href="https://medlineplus.gov/genetics/condition/hereditary-antithrombin-deficiency/">medlineplus.gov/genetics/condition/hereditary-antithrombin-deficiency/</a></li><li>National Blood Clot Alliance -- <a class="extln" target="_blank" href="https://www.stoptheclot.org/programs-services/">www.stoptheclot.org/programs-services/</a></li></ul></div></div></section><section><div class="section"><div class="section-header"><div class="section-title"><h2>Outlook (Prognosis)</h2></div><div class="section-button"><button type="submit" aria-controls="section-6" role="button" title="Expand/Collapse section"><span class="icon icon-section-action">
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</div></div><div class="section-body" id="section-6"><p>Most people have a good outcome if they stay on anticoagulant medicines.</p></div></div></section><section><div class="section"><div class="section-header"><div class="section-title"><h2>Possible Complications</h2></div><div class="section-button"><button type="submit" aria-controls="section-7" role="button" title="Expand/Collapse section"><span class="icon icon-section-action">
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</div></div><div class="section-body" id="section-7"><p>Blood clots can cause death. Blood clots in the lungs are very dangerous.</p></div></div></section><section><div class="section"><div class="section-header"><div class="section-title"><h2>When to Contact a Medical Professional</h2></div><div class="section-button"><button type="submit" aria-controls="section-8" role="button" title="Expand/Collapse section"><span class="icon icon-section-action">
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</div></div><div class="section-body" id="section-8"><p>See your provider if you have symptoms of this condition.</p></div></div></section><section><div class="section"><div class="section-header"><div class="section-title"><h2>Prevention</h2></div><div class="section-button"><button type="submit" aria-controls="section-9" role="button" title="Expand/Collapse section"><span class="icon icon-section-action">
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</div></div><div class="section-body" id="section-9"><p>Once a person is diagnosed with antithrombin III deficiency, all close family members should be screened for this disorder. Blood thinning drugs can prevent blood clots from forming and prevent complications from clotting.</p></div></div></section><section><div class="section"><div class="section-header"><div class="section-title"><h2>Alternative Names</h2></div><div class="section-button"><button type="submit" aria-controls="section-Alt" role="button" title="Expand/Collapse section"><span class="icon icon-section-action">
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</div></div><div class="section-body" id="section-Alt"><p>Deficiency - antithrombin III - congenital; Antithrombin III deficiency - congenital</p></div></div></section><section><div class="section sec-mb"><div class="section-header"><div class="section-title"><h2>Images</h2></div><div class="section-button"><button type="submit" aria-controls="section-tnails" role="button" title="Expand/Collapse section"><span class="icon icon-section-action">
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<li><img src="//medlineplus.gov/ency/images/ency/tnails/8984t.jpg" alt="Venous blood clot" title="Venous blood clot" class="side-img"/><a href="../imagepages/8984.htm">Venous blood clot</a></li>
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</ul></div></div></section><section><div class="section"><div class="section-header"><div class="section-title"><h2>References</h2></div><div class="section-button"><button type="submit" aria-controls="section-Ref" role="button" title="Expand/Collapse section"><span class="icon icon-section-action">
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</div></div><div class="section-body" id="section-Ref"><p>Anderson JAM, Weitz JI. Hypercoagulable states. In: Hoffman R, Benz EJ, Silberstein LE, Heslop HE, Weitz JI, Salama ME, et al, eds. <em>Hematology: Basic Principles and Practice</em>. 8th ed. Philadelphia, PA: Elsevier; 2023:chap 138.</p><p>Mhyre JM. Hematologic and coagulation disorders. In: Chestnut DH, Wong CA, Tsen LC, et al, eds. <em>Chestnut's Obstetric Anesthesia: Principles and Practice</em>. 6th ed. Philadelphia, PA: Elsevier; 2020:chap 44.</p><p>Schafer AI. Thrombotic disorders: hypercoagulable states. In: Goldman L, Schafer AI, eds. <em>Goldman-Cecil Medicine</em>. 26th ed. Philadelphia, PA: Elsevier; 2020:chap 73.</p></div></div></section>
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